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1.
J Bodyw Mov Ther ; 38: 498-505, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38763599

RESUMO

BACKGROUND: Musculoskeletal and neurological conditions disorders are important conditions that need to be assessed in clinical practice. The tuning fork (TF) has been proposed as a practical tool to investigate suspected fractures and for the evaluation of pallesthesia in subjects with peripheral neuropathy. OBJECTIVE: the aim of this study is to define whether the tuning fork can be useful in the clinical evaluation of patients with musculoskeletal disorders and deep somatosensory dysfunctions. METHODS: This scoping review was performed in accordance with Joanna Briggs Institute. MEDLINE, Cochrane Library, PEDro, CINAHL, Web of Science, UpToDate, Scopus Database were consulted. RESULTS: 14 studies were included in the final analysis. Nine studies regard the use of tuning fork to detect fractures. If the tuning fork was used with a stethoscope, the test reached a high sensitivity ranging between 83% and 94%. Five studies investigated the tool to evaluate pallesthesia dysfunctions among which possible differences between biceps femoris strain and simple clinical rules for detecting peripheral neuropathy. CONCLUSION: The 128 Hz tuning fork could be potentially useful to detect some type of traumatic fractures. The Rydel-Seiffer tuning fork appears to be a useful tool for assessing potential nerve conduction deficits in the evaluation of pallesthesia.


Assuntos
Doenças Musculoesqueléticas , Humanos , Doenças Musculoesqueléticas/fisiopatologia , Doenças Musculoesqueléticas/diagnóstico , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/fisiopatologia , Parestesia/diagnóstico , Parestesia/fisiopatologia , Fraturas Ósseas
2.
Acta Neurochir (Wien) ; 166(1): 228, 2024 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-38780808

RESUMO

PURPOSE: Regarding surgical indications for carpal tunnel syndrome (CTS), the hypothesis that the recovery processes of subjective symptoms differ among pain, sensory, and motor symptoms and correlate with recovery in objective nerve conduction studies was examined in the present study. METHODS: The global symptom score (GSS) is a method used to assess clinical outcomes and covers subjective symptoms, including pain (pain and nocturnal awakening), sensory (numbness and paresthesia), and motor (weakness/clumsiness) symptoms. The relationships between long-term changes in GSS and recovery in nerve conduction studies were investigated. RESULTS: Forty patients (40 hands) were included (mean age 65 years; 80% female; 68% with moderate CTS: sensory nerve conduction velocity < 45 m/s and motor nerve distal latency > 4.5 ms). Pain and nocturnal awakening rapidly subsided within 1 month after surgery and did not recur in the long term (median 5.6 years). Paresthesia significantly decreased 3 months after surgery and in the long term thereafter. Weakness/clumsiness significantly decreased at 1 year. Sensory nerve distal latency, conduction velocity, and amplitude significantly improved 3 months and 1 year after surgery, and correlated with nocturnal awakening in the short term (3 months) in moderate CTS cases. The patient satisfaction rate was 91%. CONCLUSION: Rapid recovery was observed in pain and nocturnal awakening, of which nocturnal awakening correlated with the recovery of sensory nerve conduction velocity. Patients with pain symptoms due to moderate CTS may benefit from surgical release.


Assuntos
Síndrome do Túnel Carpal , Condução Nervosa , Humanos , Síndrome do Túnel Carpal/cirurgia , Síndrome do Túnel Carpal/fisiopatologia , Síndrome do Túnel Carpal/diagnóstico , Feminino , Masculino , Idoso , Pessoa de Meia-Idade , Condução Nervosa/fisiologia , Resultado do Tratamento , Adulto , Idoso de 80 Anos ou mais , Nervo Mediano/cirurgia , Nervo Mediano/fisiopatologia , Parestesia/etiologia , Parestesia/fisiopatologia , Parestesia/cirurgia , Recuperação de Função Fisiológica/fisiologia
3.
Skin Res Technol ; 30(5): e13723, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38696233

RESUMO

BACKGROUND: Notalgia paresthetica (NP) is a rare condition characterized by localized pain and pruritus of the upper back, associated with a distinct area of hyperpigmentation. Given the lack of standardized treatment and the uncertain efficacy of available options, applying procedural methods is of growing interest in treating NP. AIMS: We sought to comprehensively evaluate the role of procedural treatments for NP. METHODS: We systematically searched PubMed/Medline, Ovid Embase, and Web of Science until November 14th, 2023. We also performed a citation search to detect all relevant studies. Original clinical studies published in the English language were included. RESULTS: Out of 243 articles, sixteen studies have reported various procedural modalities, with or without pharmacological components, in treating NP. Pharmacological procedures, including injections of botulinum toxin, lidocaine, and corticosteroids, led to a level of improvement in case reports and case series. However, botulinum toxin did not show acceptable results in a clinical trial. Moreover, non-pharmacological procedures were as follows: physical therapy, exercise therapy, kinesiotherapy, acupuncture and dry needling, electrical muscle stimulation, surgical decompression, and phototherapy. These treatments result in significant symptom control in refractory cases. Physical therapy can be considered a first-line choice or an alternative in refractory cases. CONCLUSION: Procedural modalities are critical in the multidisciplinary approach to NP, especially for patients who are refractory to topical and oral treatments. Procedural modalities include a spectrum of options that can be applied based on the disease's symptoms and severity.


Assuntos
Prurido , Humanos , Prurido/terapia , Lidocaína/administração & dosagem , Lidocaína/uso terapêutico , Parestesia/terapia , Parestesia/fisiopatologia , Hiperpigmentação/terapia , Modalidades de Fisioterapia , Terapia por Acupuntura/métodos , Toxinas Botulínicas/administração & dosagem , Toxinas Botulínicas/uso terapêutico , Anestésicos Locais/administração & dosagem , Terapia por Exercício/métodos , Corticosteroides/uso terapêutico , Corticosteroides/administração & dosagem , Agulhamento Seco/métodos
4.
Niger J Physiol Sci ; 38(2): 121-123, 2023 Dec 31.
Artigo em Inglês | MEDLINE | ID: mdl-38696692

RESUMO

The concept of referred pain is an integral part of the anatomy didactic content taught and discussed in all medical school curricula.  However, this discussion has excluded the topic of phantom limb pain, despite the existence of parallels in neurophysiological explanations between these conditions. This brief viewpoint attempts to reason why phantom limb paresthesia or pain should be included in the fold of refereed pain discussions.


Assuntos
Plasticidade Neuronal , Dor Referida , Membro Fantasma , Humanos , Membro Fantasma/fisiopatologia , Plasticidade Neuronal/fisiologia , Dor Referida/fisiopatologia , Parestesia/fisiopatologia
5.
Headache ; 61(10): 1581-1583, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34873689

RESUMO

BACKGROUND: Red ear syndrome (RES) was first described by Lance in 1994. It is characterized by recurrent attacks of redness of the ear, accompanied by burning pain, increased temperature, dysesthesia, and nosological relationship with headache. CASE: We report the case of a 43-year-old woman with migraine who developed RES. Redness episodes occurred at the same time of the day. She had a good therapeutic response to gabapentin. CONCLUSIONS: To the best of our knowledge, this is the first case of RES in which redness episodes occurred at the same time of the day.


Assuntos
Ritmo Circadiano , Orelha , Eritema/fisiopatologia , Transtornos de Enxaqueca/fisiopatologia , Dor/fisiopatologia , Adulto , Feminino , Gabapentina/uso terapêutico , Humanos , Parestesia/fisiopatologia
7.
Rev Neurosci ; 32(3): 351-361, 2021 04 27.
Artigo em Inglês | MEDLINE | ID: mdl-33618441

RESUMO

The ongoing pandemic of Coronavirus disease 2019 (COVID-19) has infected more than 27 million confirmed cases and 8,90,000 deaths all around the world. Verity of viral infections can infect the nervous system; these viral infections can present a wide range of manifestation. The aim of the current study was to systematically review the COVID-19 associated central nervous system manifestations, mental and neurological symptoms. For that we conducted a comprehensive systematic literature review of four online databases, including Web of Science, PubMed, Scopus and Embase. All relevant articles that reported psychiatric/psychological symptoms or disorders in COVID-19 without considering time and language restrictions were assessed. All the study procedures were performed based on the PRISMA criteria. Due to the screening, 14 studies were included. The current study result indicated that, the pooled prevalence of CNS or mental associated disorders with 95% CI was 50.68% (6.68-93.88). The most prevalence symptoms were hyposmia/anosmia/olfactory dysfunction (number of study: 10) with 36.20% (14.99-60.51). Only one study reported numbness/paresthesia and dysphonia. Pooled prevalence of numbness/paresthesia and dysphonia was 5.83% (2.17-12.25) and 2.39% (10.75-14.22). The pooled prevalence of depression and anxiety was 3.52% (2.62-4.54) and 13.92% (9.44-19.08). Our findings demonstrate that COVID-19 has a certain relation with neurological symptoms. The hypsomia, anosmia or olfactory dysfunction was most frequent symptom. Other symptoms were headache or dizziness, dysgeusia or ageusia, dysphonia and fatigue. Depression, anxiety, and confusion were less frequent symptoms.


Assuntos
Anosmia/epidemiologia , Ansiedade/epidemiologia , COVID-19/fisiopatologia , Depressão/epidemiologia , Anosmia/fisiopatologia , Ansiedade/psicologia , COVID-19/psicologia , Depressão/psicologia , Disgeusia/epidemiologia , Disgeusia/fisiopatologia , Disfonia/epidemiologia , Disfonia/fisiopatologia , Fadiga/epidemiologia , Fadiga/fisiopatologia , Cefaleia/epidemiologia , Cefaleia/fisiopatologia , Humanos , Hipestesia/epidemiologia , Hipestesia/fisiopatologia , Doenças do Sistema Nervoso/epidemiologia , Doenças do Sistema Nervoso/fisiopatologia , Parestesia/epidemiologia , Parestesia/fisiopatologia , Prevalência , SARS-CoV-2
8.
Sleep Breath ; 25(4): 2163-2169, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-33604802

RESUMO

PURPOSE: This study aimed to investigate pharyngeal paraesthesia symptoms in patients with obstructive sleep apnoea (OSA). MATERIAL AND METHODS: Patients with snoring and suspected OSA as well as age-matched controls were recruited. All participants underwent nocturnal polysomnography (PSG) and pharyngeal paraesthesia assessment using the Glasgow-Edinburgh throat scale (GETS). The incidence and severity of pharyngeal paraesthesia symptoms were compared between the groups. RESULTS: A total of 280 patients who snored or were suspected of having OSA and 35 healthy, age-matched controls were recruited. The total pharyngeal paraesthesia symptom score was significantly higher in the OSA group than in the healthy group (12 [5, 23] vs. 3 [0, 9]; p < 0.001). The most frequent pharyngeal paraesthesia symptoms in the snore patients were Q7 (catarrh down the throat) and Q3 (discomfort/irritation in the throat), which are related to the irritability of the throat. The incidence of Q7 (OSA, 58% vs. controls, 14%; χ2 = 23.66; p < 0.001), Q3 (OSA, 46% vs. controls, 3%; χ2 = 23.07; p < 0.001), Q1 (feeling of something stuck in the throat; OSA, 33% vs. controls, 6%; χ2 = 11.00; p = 0.001), Q6 (swelling in the throat; OSA, 31% vs. controls, 0%; χ2 = 14.53; p < 0.001), Q9 (want to swallow all the time; OSA, 20% vs. controls, 6%; χ2 = 6.28; p = 0.012), Q5 (throat closing off; OSA, 24% vs. controls, 6%; χ2 = 6.16; p = 0.013), and Q2 (pain in the throat; OSA, 23% vs. controls, 6%; χ2 = 5.32; p = 0.021) was significantly higher in the OSA group than in the controls CONCLUSIONS: Patients with obstructive sleep apnoea have higher pharyngeal paraesthesia symptoms scores and tend to have irritated throats compared to healthy controls. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov identifier: NCT03506178.


Assuntos
Parestesia/fisiopatologia , Doenças Faríngeas/fisiopatologia , Apneia Obstrutiva do Sono/fisiopatologia , Ronco/fisiopatologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Faringite/fisiopatologia , Polissonografia
9.
Neurology ; 96(11): e1527-e1538, 2021 03 16.
Artigo em Inglês | MEDLINE | ID: mdl-33443111

RESUMO

OBJECTIVE: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is protean in its manifestations, affecting nearly every organ system. However, nervous system involvement and its effect on disease outcome are poorly characterized. The objective of this study was to determine whether neurologic syndromes are associated with increased risk of inpatient mortality. METHODS: A total of 581 hospitalized patients with confirmed SARS-CoV-2 infection, neurologic involvement, and brain imaging were compared to hospitalized non-neurologic patients with coronavirus disease 2019 (COVID-19). Four patterns of neurologic manifestations were identified: acute stroke, new or recrudescent seizures, altered mentation with normal imaging, and neuro-COVID-19 complex. Factors present on admission were analyzed as potential predictors of in-hospital mortality, including sociodemographic variables, preexisting comorbidities, vital signs, laboratory values, and pattern of neurologic manifestations. Significant predictors were incorporated into a disease severity score. Patients with neurologic manifestations were matched with patients of the same age and disease severity to assess the risk of death. RESULTS: A total of 4,711 patients with confirmed SARS-CoV-2 infection were admitted to one medical system in New York City during a 6-week period. Of these, 581 (12%) had neurologic issues of sufficient concern to warrant neuroimaging. These patients were compared to 1,743 non-neurologic patients with COVID-19 matched for age and disease severity admitted during the same period. Patients with altered mentation (n = 258, p = 0.04, odds ratio [OR] 1.39, confidence interval [CI] 1.04-1.86) or radiologically confirmed stroke (n = 55, p = 0.001, OR 3.1, CI 1.65-5.92) had a higher risk of mortality than age- and severity-matched controls. CONCLUSIONS: The incidence of altered mentation or stroke on admission predicts a modest but significantly higher risk of in-hospital mortality independent of disease severity. While other biomarker factors also predict mortality, measures to identify and treat such patients may be important in reducing overall mortality of COVID-19.


Assuntos
COVID-19/mortalidade , Confusão/fisiopatologia , Transtornos da Consciência/fisiopatologia , Mortalidade Hospitalar , Acidente Vascular Cerebral/fisiopatologia , Idoso , Idoso de 80 Anos ou mais , Ageusia/epidemiologia , Ageusia/fisiopatologia , Anosmia/epidemiologia , Anosmia/fisiopatologia , Ataxia/epidemiologia , Ataxia/fisiopatologia , COVID-19/fisiopatologia , Confusão/epidemiologia , Transtornos da Consciência/epidemiologia , Doenças dos Nervos Cranianos/epidemiologia , Doenças dos Nervos Cranianos/fisiopatologia , Delírio/epidemiologia , Delírio/fisiopatologia , Feminino , Cefaleia/epidemiologia , Cefaleia/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Parestesia/epidemiologia , Parestesia/fisiopatologia , Disautonomias Primárias/epidemiologia , Disautonomias Primárias/fisiopatologia , Recidiva , SARS-CoV-2 , Convulsões/epidemiologia , Convulsões/fisiopatologia , Acidente Vascular Cerebral/epidemiologia , Vertigem/epidemiologia , Vertigem/fisiopatologia
10.
BMJ Case Rep ; 14(1)2021 Jan 26.
Artigo em Inglês | MEDLINE | ID: mdl-33500294

RESUMO

Prototheca wickerhamii is a common, indolent alga that seldom causes central nervous system infections in humans. We report the first UK case of cerebral protothecosis in an immunocompetent 56-year-old woman who presented with a 5-month history of intermittent fatigue followed by a 2-week history of symptoms, including right arm and leg weakness, a loss of fine motor coordination, worsening gait, right facial tingling, diplopia and a metallic oral taste. MRI scans revealed a multifocal abnormality suggestive of high-grade glioma. Given the clinical presentation, absence of immunodeficiency and characteristic MRI features, a diagnosis of high-grade glioma was deemed most likely by the multidisciplinary team. Surgical biopsy provided material for histopathological and microbiological diagnosis. She underwent a 2-year course of antimicrobials with surveillance MRI scans. The patient made a good functional recovery but still retains mild neurological sequelae.


Assuntos
Anfotericina B/uso terapêutico , Anti-Infecciosos/uso terapêutico , Neoplasias Encefálicas/diagnóstico , Infecções do Sistema Nervoso Central/diagnóstico por imagem , Glioma/diagnóstico , Prototheca , Tetraciclina/uso terapêutico , Biópsia , Infecções do Sistema Nervoso Central/tratamento farmacológico , Infecções do Sistema Nervoso Central/patologia , Infecções do Sistema Nervoso Central/fisiopatologia , Diagnóstico Diferencial , Diplopia/fisiopatologia , Face , Feminino , Transtornos Neurológicos da Marcha/fisiopatologia , Humanos , Imunocompetência , Infecções/diagnóstico por imagem , Infecções/tratamento farmacológico , Infecções/patologia , Infecções/fisiopatologia , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Procedimentos Neurocirúrgicos , Parestesia/fisiopatologia , Distúrbios do Paladar/fisiopatologia
11.
BMJ Case Rep ; 14(1)2021 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-33462068

RESUMO

We describe a case of delayed onset, acute demyelinating neuropathy secondary to novel SARS-CoV-2 infection. A previously healthy 46-year-old man presented with bilateral leg pain and loss of sensation in his feet 53 days after having COVID-19 pneumonitis. He developed painful sensory symptoms followed by a rapidly progressive lower motor neuron weakness involving all limbs, face and respiratory muscles, needing ventilatory support. In keeping with a diagnosis of Guillain-Barré syndrome, cerebrospinal fluid examination showed albuminocytologic dissociation and nerve conduction studies supported the diagnosis of an acute inflammatory demyelinating polyradiculoneuropathy. The delayed neurological dysfunction seen in our patient following SARS-CoV-2 infection may indicate a novel mechanism of disease that is part of the emerging 'long COVID-19 syndrome'.


Assuntos
COVID-19/complicações , Síndrome de Guillain-Barré/fisiopatologia , Debilidade Muscular/fisiopatologia , Neuralgia/fisiopatologia , Parestesia/fisiopatologia , COVID-19/fisiopatologia , Eletrodiagnóstico , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/terapia , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Transtornos de Início Tardio , Masculino , Pessoa de Meia-Idade , Condução Nervosa , Ventilação não Invasiva , SARS-CoV-2 , Fatores de Tempo , Síndrome de COVID-19 Pós-Aguda
13.
Muscle Nerve ; 63(2): 170-177, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-32989823

RESUMO

Idiopathic small fiber neuropathy (iSFN) lacks broadly accepted diagnostic criteria, which hinders its timely diagnosis and treatment. A systematic literature review was performed to assess the published screening and diagnostic criteria for iSFN, excluding studies where SFN was of well-established etiology. Eighty-four clinical studies and seven guideline/review publications were included in this systematic review. Substantial heterogeneity existed in iSFN diagnostic criteria. The most common set of criteria to diagnose iSFN [presence of any symptoms of iSFN, absence of large fiber involvement, and reduced intraepidermal nerve fiber density (IENFD)] was used in only 14% of studies. Mandatory individual criteria to confirm iSFN included any sensory symptoms (60% of studies), pain (19% of studies), small fiber signs (20% of studies), absence of large fiber signs (62% of studies), reduced IENFD (38% of studies), and autonomic symptoms (1% of studies). This review highlights a clear need for standardized, evidence-based guidelines for diagnosing iSFN.


Assuntos
Epiderme/patologia , Hiperalgesia/fisiopatologia , Hipestesia/fisiopatologia , Fibras Nervosas/patologia , Neuralgia/fisiopatologia , Parestesia/fisiopatologia , Neuropatia de Pequenas Fibras/diagnóstico , Sistema Nervoso Autônomo/fisiopatologia , Eletrodiagnóstico , Resposta Galvânica da Pele , Humanos , Condução Nervosa , Prurido/fisiopatologia , Neuropatia de Pequenas Fibras/patologia , Neuropatia de Pequenas Fibras/fisiopatologia , Sistema Vasomotor/fisiopatologia
14.
Muscle Nerve ; 63(3): E21-E24, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33314145

Assuntos
Inibidores de Checkpoint Imunológico/efeitos adversos , Melanoma/tratamento farmacológico , Doenças Musculares/induzido quimicamente , Miosite/induzido quimicamente , Miotonia Congênita/complicações , Distrofia Miotônica/complicações , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Neoplasias Cutâneas/tratamento farmacológico , Idoso , Anticorpos Monoclonais Humanizados/efeitos adversos , Cardiomiopatia Dilatada , Canais de Cloreto/genética , Conectina/genética , Transtornos de Deglutição/induzido quimicamente , Transtornos de Deglutição/complicações , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/fisiopatologia , Eletrodiagnóstico , Eletromiografia , Humanos , Ipilimumab/efeitos adversos , Imageamento por Ressonância Magnética , Masculino , Melanoma/secundário , Doenças Musculares/complicações , Doenças Musculares/genética , Doenças Musculares/fisiopatologia , Miosite/complicações , Miosite/diagnóstico , Miosite/fisiopatologia , Miotonia Congênita/diagnóstico , Miotonia Congênita/genética , Miotonia Congênita/fisiopatologia , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/fisiopatologia , Condução Nervosa , Nivolumabe/efeitos adversos , Parestesia/induzido quimicamente , Parestesia/complicações , Parestesia/fisiopatologia , Doenças do Sistema Nervoso Periférico/complicações , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/fisiopatologia , Proteínas de Ligação a RNA/genética , Neoplasias Cutâneas/patologia , Neoplasias da Coluna Vertebral/tratamento farmacológico , Neoplasias da Coluna Vertebral/secundário
15.
Neurologist ; 25(6): 187-189, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33181729

RESUMO

INTRODUCTION: Hirayama disease is a rare clinical entity that presents typically as a unilateral, slowly progressive arms weakness, mostly occurring in young men. CASE REPORT: We report a case of Hirayama disease in a 20-year-old man presenting with a 4-year history of progressive paresthesia starting in his left arm, progressing to the right arm 1 year later. Four months before the presentation, he experienced bilateral foot paresthesias. Examination revealed weakness of the abductor digiti minimi, hallux extension weakness, and postural tremor bilaterally. He had hypersensitivity to pinprick in both hands with ulnar and median distribution. Sensory examination in the legs was normal. He had a postural tremor in both hands, which worsened on neck flexion. Spinal fluid analysis, including oligoclonal band testing, was normal. Electromyography demonstrated bilateral chronic C7 and C8 radiculopathies. Laboratory tests were normal. Flexion-extension magnetic resonance imaging demonstrated laxity of the dura and ligamentum flavum, with compression of cervical cord, maximal at C5-C6 in neck flexion. CONCLUSIONS: Laxity of the posterior dura during neck flexion has been postulated to lead to asymmetric lower cervical cord atrophy. Involvement of all 4 limbs is rare, and the condition can be mistaken for progressive multiple sclerosis.


Assuntos
Extremidades/fisiopatologia , Parestesia/etiologia , Atrofias Musculares Espinais da Infância/complicações , Atrofias Musculares Espinais da Infância/diagnóstico , Adulto , Humanos , Masculino , Parestesia/fisiopatologia , Adulto Jovem
16.
Acta Neuropathol Commun ; 8(1): 188, 2020 11 09.
Artigo em Inglês | MEDLINE | ID: mdl-33168084

RESUMO

Spinal muscular atrophy (SMA) is largely linked to deletion or mutation of the Survival motor neuron 1 (SMN1) gene located on chromosome 5q13. Type III (Kugelberg-Welander disease) is the mildest childhood form and patients may become ambulatory and have a normal life expectancy. We report the clinical history and morphological findings of a 55-year-old woman who began to experience motor problems at the age of two. She was never fully ambulatory, and her severe scoliosis required the insertion of surgical rod at age 19. Unexpectedly, around 35 years of age, she began to experience sensory symptoms best characterized as a myelo-radiculo-neuropathy with pain as the dominant symptom. Investigations never clarified the etiology of these symptoms. Molecular confirmation of SMA type III was done post-mortem. Neuropathological examination showed classic changes of lower motor neuron neurodegeneration, in line with those reported in the single molecularly confirmed case published so far, and with findings in rare cases reported prior to the discovery of the gene defect. A key autopsy finding was the presence of a severe superficial siderosis of the lower half of the spinal cord. In recent years, the concept of duropathy was put forward, associating superficial siderosis of the spinal cord with various spinal abnormalities, some of which were present in our patient. The presence of significant hemosiderin deposits in the spinal cord and sensory nerve roots with associated tissue and axonal damage provide a plausible explanation for the unexpected sensory symptomatology in this mild lower motor neurodegeneration.


Assuntos
Hemossiderina/metabolismo , Hemossiderose/patologia , Neuralgia/fisiopatologia , Radiculopatia/fisiopatologia , Doenças da Medula Espinal/patologia , Atrofias Musculares Espinais da Infância/patologia , Feminino , Hemossiderose/metabolismo , Hemossiderose/fisiopatologia , Humanos , Hiperalgesia/fisiopatologia , Pessoa de Meia-Idade , Parestesia/fisiopatologia , Doenças da Medula Espinal/complicações , Doenças da Medula Espinal/metabolismo , Doenças da Medula Espinal/fisiopatologia , Atrofias Musculares Espinais da Infância/complicações , Atrofias Musculares Espinais da Infância/genética , Proteína 1 de Sobrevivência do Neurônio Motor/genética , Proteína 2 de Sobrevivência do Neurônio Motor/genética
17.
J Neurol Neurosurg Psychiatry ; 91(12): 1270-1278, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33055140

RESUMO

The current gold standard surgical treatment for medication-resistant essential tremor (ET) is deep brain stimulation (DBS). However, recent advances in technologies have led to the development of incisionless techniques, such as magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy. The authors perform a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement to compare unilateral MRgFUS thalamotomy to unilateral and bilateral DBS in the treatment of ET in terms of tremor severity and quality of life improvement. PubMed, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials and SCOPUS databases were searched. 45 eligible articles, published between 1990 and 2019, were retrieved. 1202 patients were treated with DBS and 477 were treated with MRgFUS thalamotomy. Postoperative tremor improvement was greater following DBS than MRgFUS thalamotomy (p<0.001). A subgroup analysis was carried out stratifying by treatment laterality: bilateral DBS was significantly superior to both MRgFUS and unilateral DBS (p<0.001), but no significant difference was recorded between MRgFUS and unilateral DBS (p<0.198). Postoperative quality of life improvement was significantly greater following MRgFUS thalamotomy than DBS (p<0.001). Complications were differently distributed among the two groups (p<0.001). Persistent complications were significantly more common in the MRgFUS group (p=0.042). While bilateral DBS proves superior to unilateral MRgFUS thalamotomy in the treatment of ET, a subgroup analysis suggests that treatment laterality is the most significant determinant of tremor improvement, thus highlighting the importance of future investigations on bilateral staged MRgFUS thalamotomy.


Assuntos
Estimulação Encefálica Profunda/métodos , Tremor Essencial/terapia , Ablação por Ultrassom Focalizado de Alta Intensidade/métodos , Tremor Essencial/fisiopatologia , Transtornos Neurológicos da Marcha/epidemiologia , Transtornos Neurológicos da Marcha/fisiopatologia , Humanos , Hipestesia/epidemiologia , Hipestesia/fisiopatologia , Neuroestimuladores Implantáveis , Imageamento por Ressonância Magnética , Procedimentos Neurocirúrgicos , Parestesia/epidemiologia , Parestesia/fisiopatologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/fisiopatologia , Implantação de Prótese , Distúrbios da Fala/epidemiologia , Distúrbios da Fala/fisiopatologia , Cirurgia Assistida por Computador , Tálamo/cirurgia , Resultado do Tratamento
18.
BMJ Case Rep ; 13(9)2020 Sep 21.
Artigo em Inglês | MEDLINE | ID: mdl-32958554

RESUMO

Clinical manifestations of COVID-19 are known to be variable with growing evidence of nervous system involvement. In this case report, we describe the symptoms of a patient infected with SARS-CoV-2 whose clinical course was complicated with Guillain-Barré syndrome (GBS). We present a case of a 58-year-old woman who was initially diagnosed with COVID-19 pneumonia due to symptoms of fever and cough. Two weeks later, after the resolution of upper respiratory tract symptoms, she developed symmetric ascending quadriparesis and paresthesias. The diagnosis of GBS was made through cerebrospinal fluid analysis and she was successfully treated with intravenous immunoglobulin administration.


Assuntos
Infecções por Coronavirus/complicações , Síndrome de Guillain-Barré/fisiopatologia , Dor Lombar/fisiopatologia , Debilidade Muscular/fisiopatologia , Parestesia/fisiopatologia , Pneumonia Viral/complicações , Analgésicos/uso terapêutico , Betacoronavirus , Encéfalo/diagnóstico por imagem , COVID-19 , Infecções por Coronavirus/diagnóstico , Diagnóstico Diferencial , Feminino , Gabapentina/uso terapêutico , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/etiologia , Síndrome de Guillain-Barré/terapia , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Vértebras Lombares/diagnóstico por imagem , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Pandemias , Pneumonia Viral/diagnóstico , Radiculopatia/diagnóstico , SARS-CoV-2 , Medula Espinal/diagnóstico por imagem
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